PDZD9
Chr 16PDZ domain containing 9
Also known as: C16orf65
📖
Open GeneReview ↗GeneReview available — PDZD9
Authoritative clinical overview · Recommended first read
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.003
Z-score 1.09
OE 0.59 (0.31–1.24)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.83Z-score
OE missense 0.77 (0.64–0.93)
79 obs / 102.6 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.59 (0.31–1.24)
0≤0.351.4
Missense OE?0.77 (0.64–0.93)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 5 / 8.4Missense obs/exp: 79 / 102.6Syn Z: -0.46
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PDZD9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — PDZD9
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools